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50 documents available in our comprehensive collection of Mutafian resources. Find practical guides, tutorials, and documentation to enhance your knowledge.
Signposting Mutation (Whittaker - PMM Article Feb 2017.pdf)
561 KBEN 26 pages
Adam Whittaker's research explores signposting mutation in 14th- and 15th-century music theory treatises. The study focuses on the solmisation system and its expansion through overlapping hexachords. It examines the role of mutations in diatonic conceptions of musical space.
INTIMACY OF MUTATION (JohnWild_RadicalMatter.pdf)
4.08 MBEN 2 pages
The noosphere, a realm of electronically mediated thought, envelops the earth, intertwining with the biosphere.
Usher Syndrome Genetics (mv-v18-a143-zhou.pdf)
1.21 MBEN 5 pages
Two related Hutterite families from northern Alberta with Usher syndrome type I did not carry a mutation in exon 10 of PCDH15, but carried a mutation in exon 3...
Síntomas del Discurso Capitalista (517.pdf)
166 KBES 5 pages
La mutación capitalista del discurso del amo introduce una mutación de la subjetividad determinada por la declinación del nombre del padre, lo que conlleva la...
Creative Destruction (blog_creative_destruction_wvisser.pdf)
89 KBEN 2 pages
The concept of creative destruction, associated with Joseph Schumpeter, describes the process of industrial mutation that revolutionizes the economic structure...
Author comments - Kazuto Harada (12885_2016_2422_AuthorComment_V1.pdf)
135 KBEN 6 pages
Authors respond to reviews of their manuscript about the prognostic and clinical impact of PIK3CA mutation in gastric cancer, using pyrosequencing technology...
Système International (POL4422-30-H18-Larose.pdf)
593 KBFR 11 pages
Système international en mutation. Étude des transformations et des enjeux mondiaux. Mondialisation et conséquences.
L’Ami des Jardins : Mutation, le jardin de l’Ami ! Magazine (lami-des-jardins-aout-2014.pdf)
2.74 MBEN 2 pages
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Androgen Insensitivity Syndrome (-P1_150_59ESPE.pdf)
379 KBEN 1 page
33% of individuals clinically diagnosed with androgen insensitivity syndrome (AIS) but without a mutation in the androgen receptor (AR) coding gene show...
preprint (seaa2022_nielsvanharten.pdf)
542 KBEN 8 pages
Model-Driven Optimization generates smart mutation operators for multi-objective problems, extending previous work to support multi-objective optimization and...
Download PDF (JAPLR-07-00256.pdf)
587 KBEN 7 pages
Huntington's disease is an autosomal dominant neurodegenerative disorder caused by a mutation in the gene encoding the protein huntingtin, resulting in a polyQ...
Green Version (ncomms15559.pdf)
1.23 MBEN 16 pages
Leukocyte integrin Mac-1 regulates thrombosis via interaction with platelet GPIba, with Mac-1 deficiency or mutation of the Mac-1-binding site for GPIba...
Full text PDF (NEL350514A10.pdf)
373 KBEN 6 pages
Two unrelated patients with X-linked adrenoleukodystrophy (X-ALD) had the same mutation (Y296C) in the ABCD1 gene, but presented with different clinical...
Green Version (6848.full.pdf)
5.54 MBEN 17 pages
Macrophage Toll-like Receptor 9 (TLR9) contributes to chemotherapy-induced neuropathic pain in male mice, with TLR9 antagonism or mutation attenuating...
Full text PDF (NEL280507A08.pdf)
167 KBEN 4 pages
A novel non-synonymous mutation, c.3022T>C (C1008R), in the transforming growth factor β binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene was...
Publié le 22-09-2022 (5682eac39127923c81949b075384d0ab.pdf)
183 KBFR 3 pages
La Commission Régionale Mutation a tenu une réunion le 22 septembre 2022, présidée par M. Antoine ROMBALDI.
Hematopoietic Cancer Resistance (88275-v1.pdf)
1.89 MBEN 25 pages
Researchers generated a genetically engineered mouse model, Eklf(K74R), with a mutation in the hematopoietic transcription factor KLF1/EKLF, which exhibits...
Vascular Ehlers-Danlos Syndrome (1-s2.0-S1769721215300331-main.pdf)
369 KBEN 3 pages
A young woman with cervical artery dissection (CeAD) was found to have a novel missense mutation in the COL3A1 gene, associated with vascular type...
EGFR T790 Wild-Type Clones (nihms688121.pdf)
1 MBEN 22 pages
Rociletinib, a third-generation EGFR inhibitor, is active in lung cancers with T790M mutation, but resistance mechanisms emerge, including T790 wild-type...
Projet City 21 (City21.pdf)
456 KBFR 5 pages
La diffusion rapide des bonnes pratiques est un élément clé de la mutation vers des villes durables.
Polya String Models (etr142.pdf)
348 KBEN 12 pages
Researchers study random string-duplication systems, called P´olya string models, motivated by DNA storage and mutation processes, providing exact capacity or...
Robotique Automobile (BALYO-FR-datasheet-Automotive-Industry.pdf)
579 KBFR 2 pages
L'industrie automobile est en pleine mutation avec la transition vers les véhicules électriques ou hybrides, ce qui nécessite une évolution du modèle de...
Emballage et Covid (2020-11-17-www.emballagedigest.fr-17-novembre-2020-50000000346423360.pdf)
191 KBFR 3 pages
La Covid-19 a accéléré les projets dans le secteur des machines d'emballage, de process, de marquage et de contrôle, avec une mutation entamée au printemps...
Schulbetrieb Hessen (Aktuelle-Information-zum-Schul-und-Unterrichtsbetrieb.pdf)
112 KBDE 2 pages
Der Hessische Kultusminister teilt mit, dass aufgrund der Überschreitung des Inzidenzwertes von 100 und der Ausbreitung der britischen Mutation der...
HGMD and ClinVar: Avoiding the Knowledge Blind Spot (PROM-11650-001_WP_BIOX_HGMD_ClinVar_1117_WW.pdf)
235 KBEN 4 pages
A mother sued Athena Diagnostics after her son Christian died from a seizure related to Dravet syndrome, which could have been avoided if a genetic mutation...
Covid-19: Where are we on vaccines and variants? (bmj.n597.full.pdf)
482 KBEN 5 pages
New Covid-19 variants have emerged, including B.1.526 in New York, which contains a mutation that may allow the virus to escape some immune responses.
Télécharger le document (2021-12-07_ACL-Istasse_C-2021-La_Belgique_federale_a_50_ans-Vraiment.pdf)
168 KBFR 6 pages
La Belgique fédérale a cinquante ans, mais il n'existe pas d'unanimité quant à la détermination de l'époque à laquelle s'est produite cette mutation...
Fiscalité Immobilière (2023.10.20-Fiscalite-des-ventes-immo-actualise.pdf)
344 KBFR 7 pages
La formation portera sur la fiscalité des ventes immobilières, notamment la TVA et les droits de mutation, avec pour objectifs de mémoriser les règles de TVA,...
Elstar PCP® (ROELOFSB-9006_LR-ENGLISH-PCP.pdf)
346 KBEN 2 pages
Elstar P.C.P.® offers better fruit size and more intense fruit colour, originating from a mutation found at Peter and Christa Palm's fruit nursery in Jork,...
Evaluación de Cobimetinib (IPT__COBIMETINIB.pdf)
669 KBES 12 pages
El fármaco Cobimetinib (Cotelllic ®) se utiliza en el tratamiento del melanoma metastásico. Está indicado para pacientes con mutación BRAF+. Mejora la supervivencia en combinación con otros fármacos.
PU.1 Downregulation (6284-English-IranArze.pdf)
766 KBEN 7 pages
PU.1 downregulation is linked to murine radiation-induced acute myeloid leukemia (AML), with decreased PU.1 expression observed in modified strains and...
Genetic Markers (41586_2016_BFnature18614_MOESM56_ESM.pdf)
261 KBEN 5 pages
Supplementary Table 1 lists SSLP markers used for genetic mapping. It includes zero recombinant markers and other markers with their respective PCR primer combinations. Forward and reverse primer sequences are provided.
Summary sheet (Summary-Sheet-EnglishPersonalizedFields.pdf)
261 KBEN 2 pages
The BRCA-P Study is testing denosumab to reduce breast cancer risk in women with BRCA1 mutations.
Tobacco Smoke Exposure Effects (1471-2431-5-20.pdf)
286 KBEN 8 pages
Both active and passive maternal tobacco smoke exposure have similar effects on in utero mutagenesis at the HPRT locus, resulting in significant and...
Neanderthal GLI3 Variant (2023.07.03.547394v1.full.pdf)
3.69 MBEN 29 pages
A Neanderthal/Denisovan GLI3 variant contributes to anatomical variations in mice, with the R1537C substitution affecting regulation of downstream target genes...
NMS-293 Clinical Data (2023-10-12-PARP-ENA-Poster-Press-Rel-Final-v2-002.pdf)
160 KBEN 2 pages
Nerviano Medical Sciences presents preliminary clinical Phase 1 data for PARP-1 selective inhibitor NMS-03305293, showing it is well tolerated and exhibits...
NaPi-IIc Mutations (nihms-360829.pdf)
837 KBEN 15 pages
Novel NaPi-IIc mutations cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and idiopathic hypercalciuria in unrelated families, with three...
Endometrial Carcinoma (NEL360715R03.pdf)
136 KBEN 6 pages
Endometrial cancer is a complex disease driven by abnormal genetic and epigenetic alterations, as well as environmental factors, with increasing incidence...
Genetic Clocks (j29_2_3-5.pdf)
410 KBEN 3 pages
Empirical genetic clocks, when not calibrated with evolutionary timescales, yield ages of 5 to 10 thousand years, supporting biblical timelines.
Genotoxicity Testing (ucm074931.pdf)
427 KBEN 35 pages
The US FDA's guidance for industry on genotoxicity testing and data interpretation for pharmaceuticals intended for human use outlines standard test batteries,...
Wax-less Phenotype Genetics (12870_2023_4424_ReviewerReport_V8_R4.pdf)
8 KBEN 2 pages
The authors identified a new allele of BraA09g066480.3C controlling the wax-less phenotype in Chinese cabbage using QTL-seq and DNA markers.
Offre d'Emploi Maître de Conférences (FOPC_0350937D_4292.pdf)
118 KBFR 5 pages
Le poste de Maître de conférences en Histoire de l'architecture moderne est ouvert aux candidatures, notamment aux bénéficiaires de l'obligation d'emploi.
Download (3MB) (BIORXIV-2017-228783v1-Pineda Torra.pdf)
3.16 MBEN 27 pages
Disrupting myeloid-specific LXRα phosphorylation promotes FoxM1 expression and modulates atherosclerosis by inducing macrophage proliferation.
Download (whos-watching-the-watchmen-the-time-has-come-to-objectively-measure-the-quality-of-your-verification-environment.pdf)
399 KBEN 9 pages
The size and complexity of testbench code have increased dramatically with the adoption of SystemVerilog and UVM, making it essential to objectively measure...
PDF (3c67a6_f5a427a27c6a426fb1a79ac374680eed.pdf)
795 KBEN 20 pages
IFIH1 gain-of-function mutations cause a spectrum of autoinflammatory phenotypes, including Aicardi-Goutières syndrome and Singleton Merten syndrome,...
OTULIN's Role in Skin Homeostasis and Keratinocyte Regulation (41467_2021_25944_MOESM2_ESM.pdf)
3.97 MBEN 20 pages
File licensed under CC BY 4.0. Attribution required, with credit to original authors and source.
BRCA2 Haploinsufficiency (aay2611.pdf)
6.37 MBEN 10 pages
Women with heterozygous germline BRCA2 mutations have a 50-80% risk of developing breast cancer, but the pathogenesis is poorly understood.
PDF (johansonblizzard-syndrome-a-report-of-genderdiscordant-twins-with-a-novel-ubr1-mutation.pdf)
496 KBEN 6 pages
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder caused by loss-of-function mutations in the UBR1 gene, characterized by exocrine...
Convention collective CAM-FPHQ 2020-2027 (Convention-collective-FPHQ-2020-2027.pdf)
1.46 MBFR 99 pages
La convention collective est conclue entre la Coopérative des ambulanciers de la Mauricie (CAM) et la Fédération des employés du préhospitalier du Québec...
Paper (icse22-main-1314.pdf)
2.82 MBEN 12 pages
Researchers conducted a study on Havoc, a random search mechanism used in fuzzing to expose program vulnerabilities, and found that applying its default setup...
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